rs199590449
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | 3 | carrier of a hypophosphatasia allele |
| (T;T) | 4 | hypophosphatasia |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 21564110 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199590449 |
| dbSNP (classic) | rs199590449 |
| ClinGen | rs199590449 |
| ebi | rs199590449 |
| HLI | rs199590449 |
| Exac | rs199590449 |
| Gnomad | rs199590449 |
| Varsome | rs199590449 |
| LitVar | rs199590449 |
| Map | rs199590449 |
| PheGenI | rs199590449 |
| Biobank | rs199590449 |
| 1000 genomes | rs199590449 |
| hgdp | rs199590449 |
| ensembl | rs199590449 |
| geneview | rs199590449 |
| scholar | rs199590449 |
| rs199590449 | |
| pharmgkb | rs199590449 |
| gwascentral | rs199590449 |
| openSNP | rs199590449 |
| 23andMe | rs199590449 |
| SNPshot | rs199590449 |
| SNPdbe | rs199590449 |
| MSV3d | rs199590449 |
| GWAS Ctlg | rs199590449 |
| Max Magnitude | 4 |
rs199590449, also known as c.542C>T or p.S181L, is a SNP in the ALPL gene on chromosome 1.
Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the infantile form of hypophosphatasia.
This SNP is referred to as i6007029 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs199590449(T;T) |
| Alt | Rs199590449(T;T) |
| Reference | Rs199590449(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Infantile hypophosphatasia |
| Variation | info |
| Gene | ALPL |
| CLNDBN | Infantile hypophosphatasia |
| Reversed | 0 |
| HGVS | NC_000001.10:g.21890603C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000169128.1, |
